ID   GM23710
AC   CVCL_IW01
DR   Coriell; GM23710
DR   Wikidata; Q54853255
CC   Sequence variation: Mutation; HGNC; HGNC:11411; CDKL5; Unexplicit; Ex17-18del; Zygosity=Unspecified (Coriell=GM23710).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C147070; Developmental and epileptic encephalopathy 2
DI   ORDO; Orphanet_505652; CDKL5-related epileptic encephalopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   10Y
CA   Transformed cell line
DT   Created: 03-03-17; Last updated: 19-12-24; Version: 11
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